SPG21_HUMAN
ID SPG21_HUMAN Reviewed; 308 AA.
AC Q9NZD8; B4DW44; Q6ZMB6;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Maspardin;
DE AltName: Full=Acid cluster protein 33;
DE AltName: Full=Spastic paraplegia 21 autosomal recessive Mast syndrome protein;
DE AltName: Full=Spastic paraplegia 21 protein;
GN Name=SPG21; Synonyms=ACP33; ORFNames=BM-019, GL010;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY,
RP SUBCELLULAR LOCATION, INTERACTION WITH CD4, AND MUTAGENESIS OF SER-109.
RX PubMed=11113139; DOI=10.1074/jbc.m009270200;
RA Zeitlmann L., Sirim P., Kremmer E., Kolanus W.;
RT "Cloning of ACP33 as a novel intracellular ligand of CD4.";
RL J. Biol. Chem. 276:9123-9132(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
RA Zhao M., Song H., Li N., Peng Y., Han Z., Chen Z.;
RT "A novel gene expressed in human bone marrow.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RA Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.;
RT "A novel gene expressed in human liver non-tumor tissues.";
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Synovium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP INVOLVEMENT IN SPG21.
RX PubMed=14564668; DOI=10.1086/379522;
RA Simpson M.A., Cross H., Proukakis C., Pryde A., Hershberger R.,
RA Chatonnet A., Patton M.A., Crosby A.H.;
RT "Maspardin is mutated in Mast syndrome, a complicated form of hereditary
RT spastic paraplegia associated with dementia.";
RL Am. J. Hum. Genet. 73:1147-1156(2003).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP INTERACTION WITH ALDH16A1.
RX PubMed=19184135; DOI=10.1007/s10048-009-0172-6;
RA Hanna M.C., Blackstone C.;
RT "Interaction of the SPG21 protein ACP33/maspardin with the aldehyde
RT dehydrogenase ALDH16A1.";
RL Neurogenetics 10:217-228(2009).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-304, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [12]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: May play a role as a negative regulatory factor in CD4-
CC dependent T-cell activation. {ECO:0000269|PubMed:11113139}.
CC -!- SUBUNIT: Interacts with CD4. Interacts with ALDH16A1.
CC {ECO:0000269|PubMed:11113139, ECO:0000269|PubMed:19184135}.
CC -!- INTERACTION:
CC Q9NZD8; Q9NPJ3: ACOT13; NbExp=3; IntAct=EBI-742688, EBI-1045357;
CC Q9NZD8; Q6RW13: AGTRAP; NbExp=5; IntAct=EBI-742688, EBI-741181;
CC Q9NZD8; Q6RW13-2: AGTRAP; NbExp=3; IntAct=EBI-742688, EBI-11522760;
CC Q9NZD8; Q53H80: AKIRIN2; NbExp=11; IntAct=EBI-742688, EBI-742928;
CC Q9NZD8; P02654: APOC1; NbExp=3; IntAct=EBI-742688, EBI-1220105;
CC Q9NZD8; Q15041: ARL6IP1; NbExp=6; IntAct=EBI-742688, EBI-714543;
CC Q9NZD8; Q96BM9: ARL8A; NbExp=3; IntAct=EBI-742688, EBI-4401082;
CC Q9NZD8; Q5T9G4-2: ARMC12; NbExp=3; IntAct=EBI-742688, EBI-23667468;
CC Q9NZD8; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-742688, EBI-742909;
CC Q9NZD8; P56385: ATP5ME; NbExp=3; IntAct=EBI-742688, EBI-2270000;
CC Q9NZD8; Q8N5M1: ATPAF2; NbExp=18; IntAct=EBI-742688, EBI-1166928;
CC Q9NZD8; Q96GS4: BORCS6; NbExp=3; IntAct=EBI-742688, EBI-10193358;
CC Q9NZD8; Q8WZ55: BSND; NbExp=3; IntAct=EBI-742688, EBI-7996695;
CC Q9NZD8; Q8WW14-2: C10orf82; NbExp=3; IntAct=EBI-742688, EBI-12831628;
CC Q9NZD8; Q68D86: CCDC102B; NbExp=6; IntAct=EBI-742688, EBI-10171570;
CC Q9NZD8; Q494R4-2: CCDC153; NbExp=3; IntAct=EBI-742688, EBI-11974185;
CC Q9NZD8; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-742688, EBI-10175300;
CC Q9NZD8; O14519: CDK2AP1; NbExp=3; IntAct=EBI-742688, EBI-1052532;
CC Q9NZD8; P42772: CDKN2B; NbExp=6; IntAct=EBI-742688, EBI-711280;
CC Q9NZD8; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-742688, EBI-742887;
CC Q9NZD8; Q9Y6K0: CEPT1; NbExp=3; IntAct=EBI-742688, EBI-1237183;
CC Q9NZD8; O43822-4: CFAP410; NbExp=3; IntAct=EBI-742688, EBI-11943144;
CC Q9NZD8; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-742688, EBI-7062247;
CC Q9NZD8; Q8N7P3: CLDN22; NbExp=3; IntAct=EBI-742688, EBI-17766761;
CC Q9NZD8; Q8IZR5-2: CMTM4; NbExp=3; IntAct=EBI-742688, EBI-17278014;
CC Q9NZD8; Q96DZ9: CMTM5; NbExp=3; IntAct=EBI-742688, EBI-2548702;
CC Q9NZD8; Q96DZ9-2: CMTM5; NbExp=3; IntAct=EBI-742688, EBI-11522780;
CC Q9NZD8; Q9NX76: CMTM6; NbExp=3; IntAct=EBI-742688, EBI-1054315;
CC Q9NZD8; Q96JB2-2: COG3; NbExp=3; IntAct=EBI-742688, EBI-9091495;
CC Q9NZD8; Q9Y2V7: COG6; NbExp=3; IntAct=EBI-742688, EBI-3866319;
CC Q9NZD8; Q8N684-3: CPSF7; NbExp=3; IntAct=EBI-742688, EBI-11523759;
CC Q9NZD8; O43186: CRX; NbExp=3; IntAct=EBI-742688, EBI-748171;
CC Q9NZD8; P02489: CRYAA; NbExp=7; IntAct=EBI-742688, EBI-6875961;
CC Q9NZD8; Q8WUE5: CT55; NbExp=3; IntAct=EBI-742688, EBI-6873363;
CC Q9NZD8; O43310-2: CTIF; NbExp=3; IntAct=EBI-742688, EBI-12180013;
CC Q9NZD8; Q9NRF8: CTPS2; NbExp=4; IntAct=EBI-742688, EBI-740874;
CC Q9NZD8; Q9NTM9: CUTC; NbExp=8; IntAct=EBI-742688, EBI-714918;
CC Q9NZD8; Q9H773: DCTPP1; NbExp=3; IntAct=EBI-742688, EBI-723569;
CC Q9NZD8; Q86UW9: DTX2; NbExp=7; IntAct=EBI-742688, EBI-740376;
CC Q9NZD8; Q8TDB6: DTX3L; NbExp=10; IntAct=EBI-742688, EBI-2340392;
CC Q9NZD8; Q5JST6: EFHC2; NbExp=6; IntAct=EBI-742688, EBI-2349927;
CC Q9NZD8; O60739: EIF1B; NbExp=3; IntAct=EBI-742688, EBI-1043343;
CC Q9NZD8; Q15056-2: EIF4H; NbExp=6; IntAct=EBI-742688, EBI-12222405;
CC Q9NZD8; O00167-2: EYA2; NbExp=3; IntAct=EBI-742688, EBI-12807776;
CC Q9NZD8; Q8IWE2: FAM114A1; NbExp=7; IntAct=EBI-742688, EBI-2686288;
CC Q9NZD8; Q9NVL1-2: FAM86C1P; NbExp=3; IntAct=EBI-742688, EBI-12845222;
CC Q9NZD8; Q9H4M3-2: FBXO44; NbExp=3; IntAct=EBI-742688, EBI-12104696;
CC Q9NZD8; Q96Q35-2: FLACC1; NbExp=3; IntAct=EBI-742688, EBI-11533409;
CC Q9NZD8; Q05329: GAD2; NbExp=3; IntAct=EBI-742688, EBI-9304251;
CC Q9NZD8; O95995: GAS8; NbExp=3; IntAct=EBI-742688, EBI-1052570;
CC Q9NZD8; O14893: GEMIN2; NbExp=3; IntAct=EBI-742688, EBI-443648;
CC Q9NZD8; P57678: GEMIN4; NbExp=3; IntAct=EBI-742688, EBI-356700;
CC Q9NZD8; Q9UJY4: GGA2; NbExp=4; IntAct=EBI-742688, EBI-447646;
CC Q9NZD8; Q08379: GOLGA2; NbExp=3; IntAct=EBI-742688, EBI-618309;
CC Q9NZD8; Q9Y3E0: GOLT1B; NbExp=3; IntAct=EBI-742688, EBI-4402607;
CC Q9NZD8; Q9HAV7: GRPEL1; NbExp=3; IntAct=EBI-742688, EBI-1043499;
CC Q9NZD8; P31943: HNRNPH1; NbExp=3; IntAct=EBI-742688, EBI-351590;
CC Q9NZD8; P00492: HPRT1; NbExp=3; IntAct=EBI-742688, EBI-748210;
CC Q9NZD8; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-742688, EBI-18053395;
CC Q9NZD8; Q9UKT9: IKZF3; NbExp=6; IntAct=EBI-742688, EBI-747204;
CC Q9NZD8; Q0VD86: INCA1; NbExp=6; IntAct=EBI-742688, EBI-6509505;
CC Q9NZD8; Q15051-2: IQCB1; NbExp=3; IntAct=EBI-742688, EBI-11944935;
CC Q9NZD8; Q7L273: KCTD9; NbExp=3; IntAct=EBI-742688, EBI-4397613;
CC Q9NZD8; P13646: KRT13; NbExp=3; IntAct=EBI-742688, EBI-1223876;
CC Q9NZD8; P19012: KRT15; NbExp=3; IntAct=EBI-742688, EBI-739566;
CC Q9NZD8; P08727: KRT19; NbExp=3; IntAct=EBI-742688, EBI-742756;
CC Q9NZD8; Q15323: KRT31; NbExp=3; IntAct=EBI-742688, EBI-948001;
CC Q9NZD8; O95214: LEPROTL1; NbExp=3; IntAct=EBI-742688, EBI-750776;
CC Q9NZD8; P25800: LMO1; NbExp=3; IntAct=EBI-742688, EBI-8639312;
CC Q9NZD8; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-742688, EBI-739832;
CC Q9NZD8; Q8N112: LSMEM2; NbExp=3; IntAct=EBI-742688, EBI-10264855;
CC Q9NZD8; Q8N8X9: MAB21L3; NbExp=3; IntAct=EBI-742688, EBI-10268010;
CC Q9NZD8; Q9UJV3-2: MID2; NbExp=6; IntAct=EBI-742688, EBI-10172526;
CC Q9NZD8; O95563: MPC2; NbExp=3; IntAct=EBI-742688, EBI-719403;
CC Q9NZD8; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-742688, EBI-11522433;
CC Q9NZD8; Q9HB07: MYG1; NbExp=3; IntAct=EBI-742688, EBI-709754;
CC Q9NZD8; P15173: MYOG; NbExp=3; IntAct=EBI-742688, EBI-3906629;
CC Q9NZD8; O15049: N4BP3; NbExp=3; IntAct=EBI-742688, EBI-2512055;
CC Q9NZD8; Q15742: NAB2; NbExp=3; IntAct=EBI-742688, EBI-8641936;
CC Q9NZD8; Q8N183: NDUFAF2; NbExp=3; IntAct=EBI-742688, EBI-2682365;
CC Q9NZD8; Q9GZT8: NIF3L1; NbExp=3; IntAct=EBI-742688, EBI-740897;
CC Q9NZD8; O00746: NME4; NbExp=3; IntAct=EBI-742688, EBI-744871;
CC Q9NZD8; P16083: NQO2; NbExp=3; IntAct=EBI-742688, EBI-358466;
CC Q9NZD8; P20393: NR1D1; NbExp=3; IntAct=EBI-742688, EBI-2811738;
CC Q9NZD8; Q9H7Z3: NRDE2; NbExp=3; IntAct=EBI-742688, EBI-1042642;
CC Q9NZD8; Q7Z3B4: NUP54; NbExp=3; IntAct=EBI-742688, EBI-741048;
CC Q9NZD8; P26367: PAX6; NbExp=3; IntAct=EBI-742688, EBI-747278;
CC Q9NZD8; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-742688, EBI-10302990;
CC Q9NZD8; Q9H0N5: PCBD2; NbExp=3; IntAct=EBI-742688, EBI-634289;
CC Q9NZD8; P12004: PCNA; NbExp=3; IntAct=EBI-742688, EBI-358311;
CC Q9NZD8; O76074: PDE5A; NbExp=3; IntAct=EBI-742688, EBI-9023531;
CC Q9NZD8; Q9UBV8: PEF1; NbExp=6; IntAct=EBI-742688, EBI-724639;
CC Q9NZD8; Q99471: PFDN5; NbExp=3; IntAct=EBI-742688, EBI-357275;
CC Q9NZD8; Q04941: PLP2; NbExp=3; IntAct=EBI-742688, EBI-608347;
CC Q9NZD8; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-742688, EBI-10171633;
CC Q9NZD8; Q5JR12: PPM1J; NbExp=3; IntAct=EBI-742688, EBI-13292717;
CC Q9NZD8; P60891: PRPS1; NbExp=8; IntAct=EBI-742688, EBI-749195;
CC Q9NZD8; Q9NRG1: PRTFDC1; NbExp=3; IntAct=EBI-742688, EBI-739759;
CC Q9NZD8; P28070: PSMB4; NbExp=3; IntAct=EBI-742688, EBI-603350;
CC Q9NZD8; Q15257-2: PTPA; NbExp=5; IntAct=EBI-742688, EBI-12164121;
CC Q9NZD8; Q9UI14: RABAC1; NbExp=7; IntAct=EBI-742688, EBI-712367;
CC Q9NZD8; O43502-2: RAD51C; NbExp=3; IntAct=EBI-742688, EBI-14233893;
CC Q9NZD8; Q96HR9: REEP6; NbExp=4; IntAct=EBI-742688, EBI-750345;
CC Q9NZD8; Q96HR9-2: REEP6; NbExp=3; IntAct=EBI-742688, EBI-14065960;
CC Q9NZD8; Q04864-2: REL; NbExp=3; IntAct=EBI-742688, EBI-10829018;
CC Q9NZD8; Q9HAT0: ROPN1; NbExp=3; IntAct=EBI-742688, EBI-1378139;
CC Q9NZD8; Q9NQG5: RPRD1B; NbExp=3; IntAct=EBI-742688, EBI-747925;
CC Q9NZD8; P39019: RPS19; NbExp=3; IntAct=EBI-742688, EBI-354451;
CC Q9NZD8; Q17RB0: RTL8B; NbExp=3; IntAct=EBI-742688, EBI-10238588;
CC Q9NZD8; P04271: S100B; NbExp=7; IntAct=EBI-742688, EBI-458391;
CC Q9NZD8; Q01826: SATB1; NbExp=3; IntAct=EBI-742688, EBI-743747;
CC Q9NZD8; O15126: SCAMP1; NbExp=3; IntAct=EBI-742688, EBI-954338;
CC Q9NZD8; Q99719: SEPTIN5; NbExp=3; IntAct=EBI-742688, EBI-373345;
CC Q9NZD8; Q8WV19: SFT2D1; NbExp=3; IntAct=EBI-742688, EBI-2854842;
CC Q9NZD8; Q99961: SH3GL1; NbExp=3; IntAct=EBI-742688, EBI-697911;
CC Q9NZD8; Q7Z769: SLC35E3; NbExp=3; IntAct=EBI-742688, EBI-13389236;
CC Q9NZD8; Q8NCR6: SMRP1; NbExp=3; IntAct=EBI-742688, EBI-10269322;
CC Q9NZD8; O60504: SORBS3; NbExp=3; IntAct=EBI-742688, EBI-741237;
CC Q9NZD8; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-742688, EBI-5235340;
CC Q9NZD8; Q7Z698: SPRED2; NbExp=10; IntAct=EBI-742688, EBI-7082156;
CC Q9NZD8; A0A286YEY3: SRGAP2B; NbExp=3; IntAct=EBI-742688, EBI-17766455;
CC Q9NZD8; Q9BWG4: SSBP4; NbExp=3; IntAct=EBI-742688, EBI-744719;
CC Q9NZD8; Q6NVH7: SWSAP1; NbExp=6; IntAct=EBI-742688, EBI-5281637;
CC Q9NZD8; O43759-2: SYNGR1; NbExp=3; IntAct=EBI-742688, EBI-12187159;
CC Q9NZD8; O43761: SYNGR3; NbExp=5; IntAct=EBI-742688, EBI-11321949;
CC Q9NZD8; P08247: SYP; NbExp=3; IntAct=EBI-742688, EBI-9071725;
CC Q9NZD8; Q99081: TCF12; NbExp=4; IntAct=EBI-742688, EBI-722877;
CC Q9NZD8; P15884: TCF4; NbExp=3; IntAct=EBI-742688, EBI-533224;
CC Q9NZD8; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-742688, EBI-750487;
CC Q9NZD8; Q92734: TFG; NbExp=6; IntAct=EBI-742688, EBI-357061;
CC Q9NZD8; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-742688, EBI-1105213;
CC Q9NZD8; Q08117-2: TLE5; NbExp=3; IntAct=EBI-742688, EBI-11741437;
CC Q9NZD8; Q9BTX3: TMEM208; NbExp=3; IntAct=EBI-742688, EBI-12876824;
CC Q9NZD8; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-742688, EBI-11528917;
CC Q9NZD8; Q96NM4-3: TOX2; NbExp=3; IntAct=EBI-742688, EBI-12815137;
CC Q9NZD8; P55327-2: TPD52; NbExp=3; IntAct=EBI-742688, EBI-12124194;
CC Q9NZD8; Q13077: TRAF1; NbExp=6; IntAct=EBI-742688, EBI-359224;
CC Q9NZD8; Q12933: TRAF2; NbExp=8; IntAct=EBI-742688, EBI-355744;
CC Q9NZD8; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-742688, EBI-492476;
CC Q9NZD8; Q14142: TRIM14; NbExp=3; IntAct=EBI-742688, EBI-2820256;
CC Q9NZD8; P36406: TRIM23; NbExp=3; IntAct=EBI-742688, EBI-740098;
CC Q9NZD8; Q86XT4: TRIM50; NbExp=3; IntAct=EBI-742688, EBI-9867283;
CC Q9NZD8; Q9BYV2: TRIM54; NbExp=6; IntAct=EBI-742688, EBI-2130429;
CC Q9NZD8; Q9C026: TRIM9; NbExp=6; IntAct=EBI-742688, EBI-720828;
CC Q9NZD8; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-742688, EBI-10241197;
CC Q9NZD8; Q2TAA8: TSNAXIP1; NbExp=3; IntAct=EBI-742688, EBI-6872498;
CC Q9NZD8; Q6PF05: TTC23L; NbExp=3; IntAct=EBI-742688, EBI-8656864;
CC Q9NZD8; P10599: TXN; NbExp=6; IntAct=EBI-742688, EBI-594644;
CC Q9NZD8; Q9NX01: TXNL4B; NbExp=6; IntAct=EBI-742688, EBI-10309345;
CC Q9NZD8; Q6NVU6: UFSP1; NbExp=3; IntAct=EBI-742688, EBI-12068150;
CC Q9NZD8; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-742688, EBI-739895;
CC Q9NZD8; Q2NL98: VMAC; NbExp=3; IntAct=EBI-742688, EBI-2803134;
CC Q9NZD8; Q9BRG1: VPS25; NbExp=3; IntAct=EBI-742688, EBI-741945;
CC Q9NZD8; B2RXF5: ZBTB42; NbExp=3; IntAct=EBI-742688, EBI-12287587;
CC Q9NZD8; Q9H0C1: ZMYND12; NbExp=5; IntAct=EBI-742688, EBI-12030590;
CC Q9NZD8; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-742688, EBI-745520;
CC Q9NZD8; Q9UEG4: ZNF629; NbExp=3; IntAct=EBI-742688, EBI-9977294;
CC Q9NZD8; P03410: tax; Xeno; NbExp=3; IntAct=EBI-742688, EBI-9676218;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11113139}.
CC Membrane {ECO:0000269|PubMed:11113139}; Peripheral membrane protein
CC {ECO:0000269|PubMed:11113139}. Endosome membrane
CC {ECO:0000269|PubMed:11113139}; Peripheral membrane protein
CC {ECO:0000269|PubMed:11113139}. Golgi apparatus, trans-Golgi network
CC membrane {ECO:0000269|PubMed:11113139}; Peripheral membrane protein
CC {ECO:0000269|PubMed:11113139}. Note=Partially localized in the cytosol
CC but also accumulated on an intracellular vesicular compartment.
CC Colocalizes with CD4 on endosomal/trans-Golgi network.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NZD8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NZD8-2; Sequence=VSP_041512;
CC -!- TISSUE SPECIFICITY: Expressed in all tissues tested, including heart,
CC brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
CC Expressed in J.CaM1.6, HuT 78 and HeLa cell lines (at protein level).
CC {ECO:0000269|PubMed:11113139}.
CC -!- DISEASE: Spastic paraplegia 21, autosomal recessive (SPG21)
CC [MIM:248900]: A form of spastic paraplegia, a neurodegenerative
CC disorder characterized by a slow, gradual, progressive weakness and
CC spasticity of the lower limbs. Rate of progression and the severity of
CC symptoms are quite variable. Initial symptoms may include difficulty
CC with balance, weakness and stiffness in the legs, muscle spasms, and
CC dragging the toes when walking. In some forms of the disorder, bladder
CC symptoms (such as incontinence) may appear, or the weakness and
CC stiffness may spread to other parts of the body. SPG21 is associated
CC with dementia and other central nervous system abnormalities. Subtle
CC childhood abnormalities may be present, but the main features develop
CC in early adulthood. The disease is slowly progressive, and cerebellar
CC and extrapyramidal signs are also found in patients with advanced
CC disease. Patients have a thin corpus callosum and white-matter
CC abnormalities. {ECO:0000269|PubMed:14564668}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the AB hydrolase superfamily. {ECO:0000305}.
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DR EMBL; AF208861; AAF64275.1; -; mRNA.
DR EMBL; AF212231; AAK14917.1; -; mRNA.
DR EMBL; AK172849; BAD18813.1; -; mRNA.
DR EMBL; AK301362; BAG62906.1; -; mRNA.
DR EMBL; AC069368; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC103691; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471082; EAW77704.1; -; Genomic_DNA.
DR EMBL; BC000244; AAH00244.1; -; mRNA.
DR CCDS; CCDS10198.1; -. [Q9NZD8-1]
DR CCDS; CCDS45279.1; -. [Q9NZD8-2]
DR RefSeq; NP_001121361.1; NM_001127889.4. [Q9NZD8-1]
DR RefSeq; NP_001121362.1; NM_001127890.4. [Q9NZD8-2]
DR RefSeq; NP_057714.1; NM_016630.6. [Q9NZD8-1]
DR RefSeq; XP_005254494.1; XM_005254437.4. [Q9NZD8-1]
DR RefSeq; XP_016877786.1; XM_017022297.1. [Q9NZD8-1]
DR RefSeq; XP_016877787.1; XM_017022298.1. [Q9NZD8-1]
DR AlphaFoldDB; Q9NZD8; -.
DR SMR; Q9NZD8; -.
DR BioGRID; 119474; 193.
DR IntAct; Q9NZD8; 167.
DR MINT; Q9NZD8; -.
DR STRING; 9606.ENSP00000204566; -.
DR ESTHER; human-SPG21; Maspardin-ACP33-SPG21_like.
DR iPTMnet; Q9NZD8; -.
DR PhosphoSitePlus; Q9NZD8; -.
DR BioMuta; SPG21; -.
DR DMDM; 74734726; -.
DR EPD; Q9NZD8; -.
DR jPOST; Q9NZD8; -.
DR MassIVE; Q9NZD8; -.
DR MaxQB; Q9NZD8; -.
DR PaxDb; Q9NZD8; -.
DR PeptideAtlas; Q9NZD8; -.
DR PRIDE; Q9NZD8; -.
DR ProteomicsDB; 83377; -. [Q9NZD8-1]
DR ProteomicsDB; 83378; -. [Q9NZD8-2]
DR Antibodypedia; 25890; 110 antibodies from 20 providers.
DR DNASU; 51324; -.
DR Ensembl; ENST00000204566.7; ENSP00000204566.2; ENSG00000090487.11. [Q9NZD8-1]
DR Ensembl; ENST00000416889.6; ENSP00000394846.2; ENSG00000090487.11. [Q9NZD8-2]
DR Ensembl; ENST00000433215.6; ENSP00000404111.2; ENSG00000090487.11. [Q9NZD8-1]
DR GeneID; 51324; -.
DR KEGG; hsa:51324; -.
DR MANE-Select; ENST00000204566.7; ENSP00000204566.2; NM_016630.7; NP_057714.1.
DR UCSC; uc002aod.5; human. [Q9NZD8-1]
DR CTD; 51324; -.
DR DisGeNET; 51324; -.
DR GeneCards; SPG21; -.
DR HGNC; HGNC:20373; SPG21.
DR HPA; ENSG00000090487; Low tissue specificity.
DR MalaCards; SPG21; -.
DR MIM; 248900; phenotype.
DR MIM; 608181; gene.
DR neXtProt; NX_Q9NZD8; -.
DR OpenTargets; ENSG00000090487; -.
DR Orphanet; 101001; Autosomal recessive spastic paraplegia type 21.
DR PharmGKB; PA134921126; -.
DR VEuPathDB; HostDB:ENSG00000090487; -.
DR eggNOG; ENOG502QPSD; Eukaryota.
DR GeneTree; ENSGT00390000007857; -.
DR HOGENOM; CLU_052260_0_0_1; -.
DR InParanoid; Q9NZD8; -.
DR OMA; SVDFMVE; -.
DR PhylomeDB; Q9NZD8; -.
DR TreeFam; TF105253; -.
DR PathwayCommons; Q9NZD8; -.
DR SignaLink; Q9NZD8; -.
DR BioGRID-ORCS; 51324; 56 hits in 1083 CRISPR screens.
DR ChiTaRS; SPG21; human.
DR GeneWiki; SPG21; -.
DR GenomeRNAi; 51324; -.
DR Pharos; Q9NZD8; Tbio.
DR PRO; PR:Q9NZD8; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9NZD8; protein.
DR Bgee; ENSG00000090487; Expressed in corpus epididymis and 205 other tissues.
DR ExpressionAtlas; Q9NZD8; baseline and differential.
DR Genevisible; Q9NZD8; HS.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0010008; C:endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0030140; C:trans-Golgi network transport vesicle; IDA:UniProtKB.
DR GO; GO:0042609; F:CD4 receptor binding; IPI:UniProtKB.
DR GO; GO:0050851; P:antigen receptor-mediated signaling pathway; IC:UniProtKB.
DR Gene3D; 3.40.50.1820; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR000073; AB_hydrolase_1.
DR InterPro; IPR026151; Maspardin.
DR PANTHER; PTHR15913; PTHR15913; 1.
DR Pfam; PF00561; Abhydrolase_1; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Endosome; Golgi apparatus;
KW Hereditary spastic paraplegia; Membrane; Neurodegeneration; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..308
FT /note="Maspardin"
FT /id="PRO_0000227980"
FT DOMAIN 87..159
FT /note="AB hydrolase-1"
FT /evidence="ECO:0000255"
FT MOD_RES 304
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT VAR_SEQ 76..102
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041512"
FT MUTAGEN 109
FT /note="S->A: Abolishes interaction with CD4."
FT /evidence="ECO:0000269|PubMed:11113139"
FT CONFLICT 40
FT /note="R -> Q (in Ref. 4; BAG62906)"
FT /evidence="ECO:0000305"
FT CONFLICT 58
FT /note="V -> A (in Ref. 4; BAG62906)"
FT /evidence="ECO:0000305"
FT CONFLICT 210
FT /note="E -> V (in Ref. 4; BAD18813)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 308 AA; 34960 MW; 83C4F7B4B3EDEC7C CRC64;
MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP PVSGTADVFF
RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL DKVHLFGASL GGFLAQKFAE
YTHKSPRVHS LILCNSFSDT SIFNQTWTAN SFWLMPAFML KKIVLGNFSS GPVDPMMADA
IDFMVDRLES LGQSELASRL TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK
LYPNARRAHL KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS
LGISQEEQ
